Pyruvate Carboxylase Deficiency

[Guest guest]

Hi ,My name is Alison and I have been a silent part of this group for

a few monthes and admire all of you for your strength and the care

you give your child. My nephew , has a Mitochonrial disease

called Pyruvate Carboxylase Deficiency and his prognosis is very

poor. At this point the Children's Hospital of Philadelphia is

doing " all they can " they are monitoring him (at the present he has a

G-ube and PIC line) but they say there are no other treatments for

him. He has been on antibioticcs no fewer than a dozen times in his

almost 7 month life. He has the muscle tone of a newborn and often

acts as though he severe pain. He is on a variety of

vitamins,medicines, and a special formula which is easier for him to

break down.My sister is lucky to have an excellent support system

with out family and therapist and doctors ,although we live in a

rural community (4 hours from Philadelphia) .My sister and I will be

attending the Mitochondria Conference in Pittsburg on August 6th and

7th. We are hoping to find a new approach either conventional or

unconventional for 's care ,but I hope at least my sister will

go away with the feeling of not being so alone. So we are looking for

any new ideas all of you may have for us and of course we will relay

any new ideas to all of you. I just wanted to introduce myself and

thank you all - reading your stories has helped me and I have relayed

those same things to my sister.